"Ambry Genetics"[submitter] AND "LOC108663993"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132190	NM_001128164.2(ATXN1):c.635A>C (p.Gln212Pro)	LOC108663993, ATXN1 (Q212P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222788	NM_001128164.2(ATXN1):c.618G>T (p.Gln206His)	ATXN1, LOC108663993 (Q206H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261457	NM_001128164.2(ATXN1):c.612G>T (p.Gln204His)	ATXN1, LOC108663993 (Q204H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 931497	NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)	ATXN1, LOC108663993 (Q203H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2554979	NM_001128164.2(ATXN1):c.606G>T (p.Gln202His)	ATXN1, LOC108663993 (Q202H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526382	NM_001128164.2(ATXN1):c.603G>T (p.Gln201His)	ATXN1, LOC108663993 (Q201H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar